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Neuronal Ceroid Lipofuscinosis (NCL) is a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death.
10 working days
Specifications
Breeds | |
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Gene | |
Organ | |
specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Mode of Inheritance | |
Chromosome | |
Also known as | |
Year Published |
General information
Neuronal Ceroid Lipofuscinosis (NCL) is a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. The variant analyzed in this test, CLN1, is caused by a recessive mutation to the gene PPT1, and is found in the Dachshund. Another variant of CLN1 has also been found in the Cane Corso.
Clinical features
Affected dogs experience progressing neurological symptoms within the first year of life. These symptoms can include nervousness, increased sensitivity to noises, loss of coordination, circling behavior and loss of vision progressing to full blindness. Euthanasia is often necessary.
Additional information
References
Pubmed ID: 20494602
Omia ID: 1504